Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Spina bifida aperta
Synonyms
ID	http://www.limics.org/hrdo/rdfns#pat_id_20186
ageOfOnset	Neonatal/infancy
id_Orpha	268369
inheritance	Multigenic/multifactorial Sporadic
patType	morphological anomaly
prefixIRI	hrdo:pat_id_20186
prefLabel	Spina bifida aperta
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0017062	MONDO	LOOM
rgo:10049	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0017062	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0017062	DOVES	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-95110	SNMI	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58557008	SNOMEDCT	LOOM